Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Abnormalities of social perception in children with Angelman syndrome
研究概览
简要总结
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments.
While basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials.
Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.
详细描述
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 children - approximately 500,000 people worldwide. It is a significant neurodevelopmental disorder. It is characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance and sensory disorders. Individuals with Angelman syndrome have specific behavioral characteristics, including happy behavior, characterized by laughter, smiling and frequent excitability.
The landscape of treatment research for Angelman syndrome has changed significantly over the past 10 years with more and more players getting involved. Different gene therapy avenues are in advanced research phases and some treatments for downstream therapies and gene activation of the paternal allele have already been in clinical trials for more than 3 years.
As basic research and clinical trials progress, the scientific community is still looking for key biomarkers to assess significant improvements in individuals participating in clinical trials.
Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, and this has also been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavior disorders in individuals with Angelman syndrome.
Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify social perception abnormalities in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •40 children with Angelman syndrome diagnosed by genetic assessment or EEG.
- •20 healthy volunteer control children with no known genetic or psychiatric neurological pathology.
- •Aged between 3 - 17 years.
- •Male or female.
- •Holders of parental authority and minors informed and not opposed to participation in the research.
排除标准
- •Refusal to participate in the study.
研究组 & 干预措施
Patients
Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman.
干预措施: questionnaires (Other)
Patients
Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman.
干预措施: Eye tracking (Other)
Patients
Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman.
干预措施: Data collection from patients' medical files (Other)
Controls
Healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology.
干预措施: Eye tracking (Other)
结局指标
主要结局
Abnormalities of social perception in children with Angelman syndrome
时间窗: Time 0
Social perception abnormalities in children with Angelman syndrome will be studied using eye tracking. Social perception will be measured during the eye-tracking test by the number of fixations in social and non-social regions.
次要结局
- Description of brain abnormalities in children with Angelman syndrome(Time 0)
- Correlation measures between eye-tracking data and multimodal brain imaging data(Time 0)
- Description of potential correlations between eye-tracking data and different genotypes of Angelman syndrome(Time 0)
- Description of potential link between eye-tracking and brain imaging data of children with Angelman syndrome to the overall eye-tracking results of children with autism spectrum disorders(Time 0)